Many people are aware that BRCA2 gene mutations are associated with an increased risk of breast cancer, but these mutations have also been linked with ovarian cancer, pancreatic cancer, prostate ...
They discovered that some genetic mutations reduced the function of the ion channel by up to 90%, resulting in a 13.3-fold greater risk of major cardiac events (arrhythmia, sudden death).
A rare cause of hereditary cognitive decline known as CSF1R-Related Disorder (CSF1R-RD) gets its name from mutations in the CSF1R gene, discovered by Mayo Clinic. Memory loss occurs as the ...
They used whole-genome sequencing and advanced computational methods to map common DNA mutations, complex structural variants, and their timing. "Our findings define new fundamental mechanisms ...
Peer ReviewDownload a summary of the editorial decision process including editorial decision letters, reviewer comments and author responses to feedback. Barrier-to-autointegration factor (BAF) is an ...